MCID: GNT033
MIFTS: 25

Genetic Prion Diseases malady

Category: Genetic diseases (common)

Aliases & Classifications for Genetic Prion Diseases

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Aliases & Descriptions for Genetic Prion Diseases:

Name: Genetic Prion Diseases 21 22 24
Transmissible Spongiform Encephalopathies 21 22 46 2
 
Prion Diseases 65
Tses 21

Classifications:



Summaries for Genetic Prion Diseases

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NINDS:46 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.

MalaCards based summary: Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to prion disease and insomnia, fatal familial. An important gene associated with Genetic Prion Diseases is PRNP (Prion Protein). Affiliated tissues include brain, heart and breast, and related mouse phenotypes are endocrine/exocrine gland and muscle.

CDC:2 Classic CJD is a human prion disease. It is a neurodegenerative disorder with characteristic clinical and diagnostic features. 

GeneReviews summary for NBK1229

Related Diseases for Genetic Prion Diseases

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Graphical network of diseases related to Genetic Prion Diseases:



Diseases related to genetic prion diseases

Symptoms for Genetic Prion Diseases

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Drugs & Therapeutics for Genetic Prion Diseases

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

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Genetic tests related to Genetic Prion Diseases:

id Genetic test Affiliating Genes
1 Genetic Prion Diseases22 PRNP

Anatomical Context for Genetic Prion Diseases

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MalaCards organs/tissues related to Genetic Prion Diseases:

33
Brain, Heart, Breast, Thyroid, Monocytes, B cells

Animal Models for Genetic Prion Diseases or affiliated genes

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MGI Mouse Phenotypes related to Genetic Prion Diseases:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.6APOE, HLA-DQB1, PRNP
2MP:00053698.5APOE, HLA-DQB1, PRNP
3MP:00053898.4APOE, HLA-DQB1, PRNP

Publications for Genetic Prion Diseases

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Articles related to Genetic Prion Diseases:

(show all 21)
idTitleAuthorsYear
1
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. (26864450)
2016
2
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. (26488179)
2015
3
Clinical findings and diagnosis in genetic prion diseases in Germany. (26076917)
2015
4
Correction: PrPST, a Soluble, Protease Resistant and Truncated PrP Form Features in the Pathogenesis of a Genetic Prion Disease. (26193641)
2015
5
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: An arterial spin labeling MRI study. (25220284)
2014
6
Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease. (24903967)
2014
7
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. (24686303)
2014
8
Ascertainment bias causes false signal of anticipation in genetic prion disease. (25279981)
2014
9
Genetic prion disease: no role for the immune system in disease pathogenesis? (25239861)
2014
10
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. (23922744)
2013
11
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. (23808898)
2013
12
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. (23555862)
2013
13
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. (22198568)
2012
14
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. (22874564)
2012
15
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. (21232818)
2011
16
Genetic prion disease-associated myelodysplasia and SIADH in siblings. (22097952)
2011
17
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. (21293298)
2011
18
ApoE distribution and family history in genetic prion diseases in Germany. (18157657)
2008
19
Genetic prion disease: the EUROCJD experience. (16187142)
2005
20
Transmissible and genetic prion diseases share a common pathway of neurodegeneration. (10617204)
1999
21
Genetic Prion Diseases (20301407)
1993

Variations for Genetic Prion Diseases

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Expression for genes affiliated with Genetic Prion Diseases

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Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for genes affiliated with Genetic Prion Diseases

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GO Terms for genes affiliated with Genetic Prion Diseases

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Biological processes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to oxidative stressGO:00069799.0APOE, PRNP

Sources for Genetic Prion Diseases

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet